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Alan H. Beggs - Publications

Affiliations: 
Department of Medicine Harvard Medical School, Boston, MA, United States 
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295 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, et al. A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes. 15. PMID 39202393 DOI: 10.3390/genes15081033  0.533
2024 Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, ... ... Beggs AH, et al. Genome Sequencing for Diagnosing Rare Diseases. The New England Journal of Medicine. 390: 1985-1997. PMID 38838312 DOI: 10.1056/NEJMoa2314761  0.637
2024 Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex. Journal of Cachexia, Sarcopenia and Muscle. PMID 38725372 DOI: 10.1002/jcsm.13470  0.812
2024 Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... Beggs AH, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics. PMID 38565148 DOI: 10.1016/j.ajhg.2024.03.008  0.654
2024 Barraza-Flores P, Moghadaszadeh B, Lee W, Isaac B, Sun L, Troiano EC, Rockowitz S, Sliz P, Beggs AH. Zebrafish and cellular models of -Related Myopathy exhibit novel embryonic and metabolic phenotypes. Biorxiv : the Preprint Server For Biology. PMID 38464009 DOI: 10.1101/2024.02.26.581979  0.781
2024 Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, ... ... Beggs AH, et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. PMID 38429495 DOI: 10.1038/s41588-023-01651-0  0.603
2023 Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, ... ... Beggs AH, et al. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Medrxiv : the Preprint Server For Health Sciences. PMID 38328047 DOI: 10.1101/2023.08.08.23293829  0.643
2023 Hills S, Li Q, Madden JA, Genetti CA, Brownstein CA, Schmitz-Abe K, Beggs AH, Agrawal PB. High number of candidate gene variants are identified as disease-causing in a period of 4 years. American Journal of Medical Genetics. Part A. PMID 38158391 DOI: 10.1002/ajmg.a.63509  0.557
2023 Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, ... ... Beggs AH, et al. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. Ebiomedicine. 99: 104894. PMID 38086156 DOI: 10.1016/j.ebiom.2023.104894  0.581
2023 Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, et al. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. The Lancet. Neurology. 22: 1125-1139. PMID 37977713 DOI: 10.1016/S1474-4422(23)00313-7  0.515
2023 Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, ... ... Beggs A, et al. Titin copy number variations associated with dominant inherited phenotypes. Journal of Medical Genetics. PMID 37935568 DOI: 10.1136/jmg-2023-109473  0.337
2023 Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... Beggs AH, et al. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences. PMID 37873196 DOI: 10.1101/2023.10.05.23296595  0.653
2023 Rybalka E, Kourakis S, Bonsett CA, Moghadaszadeh B, Beggs AH, Timpani CA. Adenylosuccinic Acid: An Orphan Drug with Untapped Potential. Pharmaceuticals (Basel, Switzerland). 16. PMID 37375769 DOI: 10.3390/ph16060822  0.694
2023 Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, ... ... Beggs AH, et al. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. American Journal of Human Genetics. PMID 37279760 DOI: 10.1016/j.ajhg.2023.05.007  0.487
2023 Widrick JJ, Lambert MR, Kunkel LM, Beggs AH. Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert Opinion On Drug Discovery. 1-13. PMID 37183669 DOI: 10.1080/17460441.2023.2211802  0.557
2023 Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex. Biorxiv : the Preprint Server For Biology. PMID 37162921 DOI: 10.1101/2023.04.24.538136  0.804
2023 Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA. Children with Early-Onset Psychosis Have Increased Burden of Rare Variants. Genes. 14. PMID 37107537 DOI: 10.3390/genes14040779  0.509
2023 Barros JS, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, Genetti CA, Brownstein CA, Carpenter TO. X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 116763. PMID 37059315 DOI: 10.1016/j.bone.2023.116763  0.498
2023 Sonne A, Peverelli L, Hernandez-Lain A, Dominguez C, Andersen JL, Milone M, Beggs AH, Ochala J. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations. American Journal of Physiology. Cell Physiology. PMID 36745529 DOI: 10.1152/ajpcell.00002.2023  0.361
2023 Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, Madden JA, Brownstein CA, Smith EC, Rajabi F, Beggs AH, Agrawal PB. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. European Journal of Human Genetics : Ejhg. PMID 36690831 DOI: 10.1038/s41431-023-01291-2  0.546
2022 Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics (Hoboken, N.J.). 4: 2200013. PMID 36910591 DOI: 10.1002/ggn2.202200013  0.695
2022 Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, ... ... Beggs AH, et al. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. The American Journal of Psychiatry. appiajp21111175. PMID 36000218 DOI: 10.1176/appi.ajp.21111175  0.495
2022 Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, et al. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases. PMID 35694931 DOI: 10.3233/JND-210781  0.5
2021 De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, et al. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Medicine. 13: 153. PMID 34645491 DOI: 10.1186/s13073-021-00965-0  0.513
2021 Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, ... ... Beggs AH, et al. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. Hgg Advances. 2. PMID 34514437 DOI: 10.1016/j.xhgg.2021.100035  0.51
2021 Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, Troiano EC, Moghadaszadeh B, Peacker BL, Leacock KA, Horwitz N, ... Beggs AH, et al. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. PMID 34506722 DOI: 10.1016/j.cell.2021.08.028  0.772
2021 de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, Malik FI, Pellegrino MA, Bottinelli R, Gondin J, Ottenheijm CAC. Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice. Human Molecular Genetics. PMID 33909041 DOI: 10.1093/hmg/ddab112  0.347
2021 Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33772220 DOI: 10.1038/s41436-021-01146-5  0.508
2021 Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, et al. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Journal of Medical Internet Research. 23: e21023. PMID 33724192 DOI: 10.2196/21023  0.499
2021 Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, ... ... Beggs AH, et al. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33658631 DOI: 10.1038/s41436-021-01114-z  0.495
2021 Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, ... ... Beggs AH, et al. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Molecular Psychiatry. PMID 33597717 DOI: 10.1038/s41380-021-01035-y  0.552
2021 Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, et al. A Cross-Sectional Study of Nemaline Myopathy. Neurology. PMID 33397769 DOI: 10.1212/WNL.0000000000011458  0.452
2021 Guo Y, Cao Y, Jardin BD, Sethi I, Ma Q, Moghadaszadeh B, Troiano EC, Mazumdar N, Trembley MA, Small EM, Yuan GC, Beggs AH, Pu WT. Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33361330 DOI: 10.1073/pnas.2008861118  0.739
2020 Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics. Part A. PMID 33098347 DOI: 10.1002/ajmg.a.61926  0.559
2020 Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, ... ... Beggs AH, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. Npj Genomic Medicine. 5: 29. PMID 32655885 DOI: 10.1038/S41525-020-0137-0  0.553
2020 Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine. 12. PMID 32434849 DOI: 10.1126/Scitranslmed.Aau9113  0.35
2020 Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Human Molecular Genetics. PMID 32160286 DOI: 10.1093/Hmg/Ddaa035  0.667
2020 Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, et al. A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Annals of Neurology. PMID 31970803 DOI: 10.1002/Ana.25685  0.675
2019 Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. Npj Genomic Medicine. 4: 32. PMID 31839987 DOI: 10.1038/S41525-019-0105-8  0.531
2019 Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31780822 DOI: 10.1038/S41436-019-0708-6  0.548
2019 de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, ... ... Beggs AH, et al. KBTBD13 is an actin-binding protein that modulates muscle kinetics. The Journal of Clinical Investigation. PMID 31671076 DOI: 10.1172/Jci124000  0.442
2019 Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, ... ... Beggs AH, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. The New England Journal of Medicine. PMID 31597037 DOI: 10.1056/Nejmoa1813279  0.559
2019 Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. Journal of Neuromuscular Diseases. PMID 31282429 DOI: 10.3233/Jnd-190389  0.632
2019 Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH. -associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harbor Molecular Case Studies. PMID 31127036 DOI: 10.1101/mcs.a004184  0.317
2019 Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics : Ejhg. PMID 30979967 DOI: 10.1038/S41431-019-0401-X  0.583
2019 Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, et al. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation. PMID 30932294 DOI: 10.1002/Humu.23745  0.392
2019 Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, ... ... Beggs AH, et al. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Developmental Cell. PMID 30930166 DOI: 10.1016/J.Devcel.2019.03.001  0.684
2019 Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. 104: 356. PMID 30735661 DOI: 10.1016/j.ajhg.2018.12.011  0.618
2019 Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH, et al. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. American Journal of Human Genetics. 104: 76-93. PMID 30609409 DOI: 10.1016/J.Ajhg.2018.11.016  0.562
2019 Villar-Quiles R, Duband-Goulet I, Cabet E, Davignon L, Genetti C, Gidaro T, Koparir A, Yuksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Juntas-Morales R, Cossée M, Servais L, Olivé M, ... Beggs A, et al. P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.354  0.312
2018 Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. American Journal of Medical Genetics. Part A. PMID 30548380 DOI: 10.1002/Ajmg.A.40628  0.365
2018 Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Martinez-Agosto JA, Shashi V, ... Beggs AH, et al. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30514889 DOI: 10.1038/S41436-018-0381-1  0.357
2018 Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. PMID 30503522 DOI: 10.1016/J.Ajhg.2018.10.027  0.729
2018 Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. Bmc Medical Genetics. 19: 197. PMID 30424743 DOI: 10.1186/S12881-018-0711-9  0.556
2018 Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, ... Beggs AH, et al. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30209271 DOI: 10.1038/S41436-018-0105-6  0.512
2018 Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, ... ... Beggs AH, et al. The BabySeq project: implementing genomic sequencing in newborns. Bmc Pediatrics. 18: 225. PMID 29986673 DOI: 10.1186/S12887-018-1200-1  0.544
2018 Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. European Journal of Medical Genetics. PMID 29960046 DOI: 10.1016/J.Ejmg.2018.06.015  0.619
2018 Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. Plos One. 13: e0199712. PMID 29944715 DOI: 10.1371/Journal.Pone.0199712  0.704
2018 Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, et al. and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29. PMID 29922587 DOI: 10.1016/J.Ymgmr.2018.06.001  0.734
2018 Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, Vannoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, ... Beggs AH, et al. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. Cold Spring Harbor Molecular Case Studies. PMID 29728376 DOI: 10.1101/mcs.a002873  0.551
2018 Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, ... ... Beggs AH, et al. Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology. PMID 29691892 DOI: 10.1002/Ana.25241  0.769
2018 Hsu CP, Moghadaszadeh B, Hartwig JH, Beggs AH. Sarcomeric and non-muscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines. Cytoskeleton (Hoboken, N.J.). PMID 29518289 DOI: 10.1002/Cm.21442  0.739
2018 Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA. RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. Plos Genetics. 14: e1007226. PMID 29518074 DOI: 10.1371/Journal.Pgen.1007226  0.648
2018 Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB. SPEG-deficient Skeletal Muscles Exhibit Abnormal Triad and Defective Calcium Handling. Human Molecular Genetics. PMID 29474540 DOI: 10.1093/Hmg/Ddy068  0.653
2018 Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, ... ... Beggs AH, et al. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Annals of Neurology. PMID 29328520 DOI: 10.1002/Ana.25144  0.47
2017 Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Human Molecular Genetics. 26: 3545-3552. PMID 28911200 DOI: 10.1093/Hmg/Ddx239  0.648
2017 Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. Jimd Reports. PMID 28726122 DOI: 10.1007/8904_2017_45  0.494
2017 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, ... ... Beggs AH, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.787
2017 Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle & Nerve. PMID 28370029 DOI: 10.1002/Mus.25658  0.602
2017 Morton SU, Prabhu SP, Lidov HG, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harbor Molecular Case Studies. 3: a001560. PMID 28299359 DOI: 10.1101/mcs.a001560  0.53
2017 Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, ... ... Beggs AH, et al. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 28237839 DOI: 10.1016/J.Ymthe.2017.02.004  0.593
2017 Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. Journal of Clinical Neuromuscular Disease. 18: 147-151. PMID 28221305 DOI: 10.1097/Cnd.0000000000000132  0.423
2017 Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, et al. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. PMID 28096516 DOI: 10.1542/Peds.2016-2252  0.538
2017 Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28079900 DOI: 10.1038/Gim.2016.193  0.566
2017 Oates EC, Yau KS, Jones K, Smith JE, Donkervoort S, Swanson L, Charlton A, Brammah S, Peduto AJ, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, ... ... Beggs A, et al. Clinical characterisation of a large international congenital titinopathy cohort Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30328-0  0.743
2017 Hackman P, Savarese M, Bönneman C, Ferreiro A, Beggs A, Gautel M, Davis M, Evangelista T, Glumac JN, Laporte J, Smith J, Richard I, Granzier H, Schneider R, Jungbluth H, et al. P.480 - Establishment of an international database of Titin mutations and their phenotypes – a follow up: 22nd International Congress of the World Muscle Society Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.519  0.425
2017 Oates E, Yau K, Jones K, Smith J, Cummings B, Farrar M, Cooper S, Lek M, Hoffman E, Straub V, Ferreiro A, Udd B, Beggs A, Bönnemann C, North K, et al. P.473 - Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.513  0.747
2017 Huntoon V, Widrick J, Sanchez C, Kutchukian C, Cao S, Beggs A, Jacquemond V, Agrawal P. SPEG deficiency is associated with muscle weakness, triad defect, abnormal calcium handling and EC coupling Neuromuscular Disorders. 27: S230. DOI: 10.1016/J.Nmd.2017.06.488  0.358
2016 Widrick JJ, Alexander M, Sanchez B, Gibbs D, Kawahara G, Beggs A, Kunkel L. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiological Genomics. physiolgenomics.0008. PMID 27764767 DOI: 10.1152/Physiolgenomics.00088.2016  0.669
2016 Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy. Muscle & Nerve. PMID 27668699 DOI: 10.1002/Mus.25416  0.616
2016 Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, et al. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harbor Molecular Case Studies. 2: a001008. PMID 27626066 DOI: 10.1101/mcs.a001008  0.581
2016 Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatric Neurology. PMID 27600546 DOI: 10.1016/J.Pediatrneurol.2016.07.012  0.511
2016 Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. The American Journal of Pathology. PMID 27102768 DOI: 10.1016/J.Ajpath.2016.02.008  0.589
2016 de Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, ... ... Beggs AH, et al. Mutation-specific effects on thin filament length in thin filament myopathy. Annals of Neurology. PMID 27074222 DOI: 10.1002/Ana.24654  0.69
2016 Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics. Part A. PMID 26887912 DOI: 10.1002/Ajmg.A.37595  0.7
2016 Goddard MA, Mack DL, Hogrel JY, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK. Erratum to Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy [Ann Transl Med, 3, 18 (2015) 262] Annals of Translational Medicine. 4. PMID 26855959 DOI: 10.3978/J.Issn.2305-5839.2015.12.44  0.377
2016 Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Journal of Neuropathology and Experimental Neurology. PMID 26823526 DOI: 10.1093/Jnen/Nlv020  0.624
2016 Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. Journal of Cancer. 7: 32-6. PMID 26722357 DOI: 10.7150/Jca.13292  0.326
2016 Elverman M, Mack D, Goddard M, Snyder J, Grange R, Poulard K, Latournerie V, Veron P, Buscara L, Bec CL, Martin S, Mavilio F, Mingozzi F, Meng H, Lawlor M, ... Beggs A, et al. 498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy Molecular Therapy. 24: S198. DOI: 10.1016/S1525-0016(16)33307-X  0.577
2016 Joureau B, Winter Jd, Conijn S, Malfatti E, Yuen M, Clarke N, Romero N, Rassier D, Beggs A, Ottenheijm C. Contractile weakness in NEM3 patients is caused by dysfunctional sarcomeres Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.175  0.312
2016 Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, ... Beggs A, et al. Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.018  0.799
2015 Goddard MA, Mack DL, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK. Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. Annals of Translational Medicine. 3: 262. PMID 26605308 DOI: 10.3978/J.Issn.2305-5839.2015.10.31  0.63
2015 Childers MK, Beggs AH, Buj-Bello A. Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. Annals of Translational Medicine. 3: 257. PMID 26605303 DOI: 10.3978/J.Issn.2305-5839.2015.10.01  0.461
2015 Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. PMID 26395884 DOI: 10.1007/S10048-015-0460-2  0.644
2015 Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics. PMID 26307083 DOI: 10.1093/Hmg/Ddv334  0.662
2015 de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skeletal Muscle. 5: 12. PMID 25949787 DOI: 10.1186/S13395-015-0037-7  0.429
2015 Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, ... ... Beggs AH, et al. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. Jama Neurology. 72: 689-98. PMID 25938801 DOI: 10.1001/Jamaneurol.2015.37  0.371
2015 Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. Plos One. 10: e0123829. PMID 25874796 DOI: 10.1371/Journal.Pone.0123829  0.654
2015 Ceyhan-Birsoy O, Talim B, Swanson LC, Karakaya M, Graff MA, Beggs AH, Topaloglu H. Whole Exome Sequencing Reveals , , and Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. Journal of Neuromuscular Diseases. 2: 87-92. PMID 25821721 DOI: 10.3233/Jnd-140038  0.425
2015 Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/Jc.2014-4215  0.548
2015 Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skeletal Muscle. 5: 1. PMID 25664165 DOI: 10.1186/S13395-014-0025-3  0.797
2015 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Beggs AH, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/Jci80057  0.778
2015 Snead EC, Taylor SM, van der Kooij M, Cosford K, Beggs AH, Shelton GD. Clinical phenotype of X-linked myotubular myopathy in labrador retriever puppies. Journal of Veterinary Internal Medicine / American College of Veterinary Internal Medicine. 29: 254-60. PMID 25581576 DOI: 10.1111/Jvim.12513  0.441
2015 Mack DL, Poulard K, Goddard M, Snyder JM, Grange RW, Doering J, Czerniecki S, Strande JL, Latournerie V, Veron P, Meng H, Yang L, Liu F, Le Bec C, Buscara L, ... ... Beggs AH, et al. 503. Minimally Effective Dose of Systemic AAV8-MTM1 Needed To Prolong Survival and Correct Severe Muscle Pathology in a Canine Model of X-Linked Myotubular Myopathy Molecular Therapy. 23: S201. DOI: 10.1016/S1525-0016(16)34112-0  0.565
2015 Mack D, Poulard K, Goddard M, Snyder J, Grange R, Doering J, Strande J, Latournerie V, Veron P, Yang L, Buscara L, Bec CL, Martin S, O'Callaghan M, Mingozzi F, ... Beggs A, et al. Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.318  0.344
2015 Joureau B, de Winter J, Pappas CT, Malfatti E, Beggs A, Clarke N, Romero N, Gregorio C, Granzier H, Stienen GJ, Ottenheijm CC. Force-Sarcomere Length Relations in Patients with Thin Filament Myopathy Caused by Mutations in NEB, ACTA1, TPM2, TPM3, KBTBD13, KLHL40 and KLHL41 Biophysical Journal. 108: 338a-339a. DOI: 10.1016/J.Bpj.2014.11.1847  0.378
2014 Goddard MA, Burlingame E, Beggs AH, Buj-Bello A, Childers MK, Marsh AP, Kelly VE. Gait characteristics in a canine model of X-linked myotubular myopathy. Journal of the Neurological Sciences. 346: 221-6. PMID 25281397 DOI: 10.1016/J.Jns.2014.08.032  0.328
2014 Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. Jama Neurology. 71: 1413-20. PMID 25264603 DOI: 10.1001/Jamaneurol.2014.1432  0.619
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Beggs AH, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.841
2014 Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, et al. Mutation update: the spectra of nebulin variants and associated myopathies. Human Mutation. 35: 1418-26. PMID 25205138 DOI: 10.1002/Humu.22693  0.669
2014 Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, HaliloÄŸlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, ... Beggs AH, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. American Journal of Human Genetics. 95: 218-26. PMID 25087613 DOI: 10.1016/J.Ajhg.2014.07.004  0.836
2014 Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW. Tissue triage and freezing for models of skeletal muscle disease. Journal of Visualized Experiments : Jove. PMID 25078247 DOI: 10.3791/51586  0.615
2014 Gupta VA, Beggs AH. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skeletal Muscle. 4: 11. PMID 24959344 DOI: 10.1186/2044-5040-4-11  0.687
2014 Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Altered translation of GATA1 in Diamond-Blackfan anemia. Nature Medicine. 20: 748-53. PMID 24952648 DOI: 10.1038/Nm.3557  0.364
2014 Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, ... Beggs AH, et al. Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. The American Journal of Pathology. 184: 1831-42. PMID 24726641 DOI: 10.1016/J.Ajpath.2014.03.003  0.615
2014 Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90. PMID 24692096 DOI: 10.1002/Humu.22554  0.682
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.681
2014 Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human Mutation. 35: 868-79. PMID 24664454 DOI: 10.1002/Humu.22553  0.468
2014 Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. European Journal of Human Genetics : Ejhg. 22: 1229-32. PMID 24549054 DOI: 10.1038/Ejhg.2014.8  0.611
2014 Smith LL, Gupta VA, Beggs AH. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Human Molecular Genetics. 23: 3566-78. PMID 24549043 DOI: 10.1093/Hmg/Ddu067  0.691
2014 North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders : Nmd. 24: 97-116. PMID 24456932 DOI: 10.1016/J.Nmd.2013.11.003  0.7
2014 Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, ... ... Beggs AH, et al. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Science Translational Medicine. 6: 220ra10. PMID 24452262 DOI: 10.1126/Scitranslmed.3007523  0.616
2014 Marttila M, Lehtokari VL, Marston SB, Nyman TA, Barnerias C, Beggs AH, Bertin E, Ceyhan-Birsoy Ö, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, et al. G.P.271 Neuromuscular Disorders. 24: 898. DOI: 10.1016/J.Nmd.2014.06.347  0.687
2014 Karakaya M, Ceyhan-Birsoy O, Beggs A, Topaloglu H. G.P.140 Neuromuscular Disorders. 24: 843. DOI: 10.1016/J.Nmd.2014.06.170  0.411
2014 Mack DL, Goddard M, Snyder JM, Doering J, Lawlor MW, Moullier P, O’Callaghan M, Beggs AH, Mavilio F, Poulard K, Latournerie V, Buj-Bello A, Childers M. G.P.41 Neuromuscular Disorders. 24: 807. DOI: 10.1016/J.Nmd.2014.06.055  0.408
2014 Dowling JJ, North KN, Goebel HH, Beggs AH. Congenital and Other Structural Myopathies Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 499-537. DOI: 10.1016/B978-0-12-417044-5.00028-7  0.54
2013 Smith LL, Beggs AH, Gupta VA. Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. Journal of Visualized Experiments : Jove. e50925. PMID 24378748 DOI: 10.3791/50925  0.668
2013 Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, ... ... Beggs AH, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020  0.775
2013 Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/J.Ejmg.2013.09.009  0.595
2013 Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, ... ... Beggs AH, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 81: 1205-14. PMID 23975875 DOI: 10.1212/Wnl.0B013E3182A6Ca62  0.75
2013 Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. Plos Genetics. 9: e1003583. PMID 23818870 DOI: 10.1371/Journal.Pgen.1003583  0.673
2013 Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Human Genetics. 132: 1265-74. PMID 23812780 DOI: 10.1007/S00439-013-1326-Z  0.416
2013 Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, ... ... Beggs AH, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93: 6-18. PMID 23746549 DOI: 10.1016/J.Ajhg.2013.05.004  0.72
2013 Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain : a Journal of Neurology. 136: 1718-31. PMID 23715096 DOI: 10.1093/Brain/Awt113  0.649
2013 de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics. 50: 383-92. PMID 23572184 DOI: 10.1136/Jmedgenet-2012-101470  0.653
2013 Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. Selenoprotein N deficiency in mice is associated with abnormal lung development. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 27: 1585-99. PMID 23325319 DOI: 10.1096/Fj.12-212688  0.811
2013 Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Human Molecular Genetics. 22: 1525-38. PMID 23307925 DOI: 10.1093/Hmg/Ddt003  0.617
2013 Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscular Disorders : Nmd. 23: 214-8. PMID 23273872 DOI: 10.1016/J.Nmd.2012.11.010  0.612
2013 Kazerounian S, Ciarlini P, Ghazvinian R, Alberich-Jorda M, Yuan D, Joshi M, Zhang H, Beggs A, Gazda HT. Increased Tumorigenesis In Ribosomal Proteins L5 and S24 Heterozygous Mice Blood. 122: 1227-1227. DOI: 10.1182/Blood.V122.21.1227.1227  0.319
2013 Ceyhan O, Beggs A. P.9.11 Transgenic zebrafish expressing mutant skeletal muscle actin, acta1a, model human nemaline myopathy Neuromuscular Disorders. 23: 787. DOI: 10.1016/J.Nmd.2013.06.524  0.486
2013 Ottenheijm CAC, Buck D, Winter Jd, Ferrara C, Piroddi N, Tesi C, Jasper R, Malik F, Meng F, Stienen G, Beggs AH, Labeit S, Poggesi C, Lawlor M, Granzier H. P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy Neuromuscular Disorders. 23: 786-786. DOI: 10.1016/J.Nmd.2013.06.523  0.471
2013 Agrawal P, Joshi M, Marinakis N, Ciarlini P, Schmitz-Abe K, Markianos K, De Girolami U, Beggs A. P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy Neuromuscular Disorders. 23: 784-785. DOI: 10.1016/J.Nmd.2013.06.518  0.459
2013 Gupta V, Kuwada J, Beggs A. P.4.11 Developing therapies for congenital myopathies by high throughput chemical screening in ryanodine receptor 1 mutant zebrafish Neuromuscular Disorders. 23: 762-763. DOI: 10.1016/J.Nmd.2013.06.449  0.408
2013 Smith L, Gupta V, Beggs A. P.4.4 BIN1 deficiency in zebrafish results in centronuclear myopathy Neuromuscular Disorders. 23: 760. DOI: 10.1016/J.Nmd.2013.06.442  0.501
2013 Childers M, Joubert R, Poulard K, Holder M, Grange R, Doering J, Lawlor M, Moal C, Jamet T, Danièle N, Martin C, Rivière C, Poppante K, Soker T, Hammer C, ... ... Beggs A, et al. P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy Neuromuscular Disorders. 23: 760. DOI: 10.1016/J.Nmd.2013.06.441  0.426
2013 Ceyhan O, Talim B, Beggs A, Topaloglu H. P.1.12 Whole exome sequencing as a genetic diagnostic tool for congenital muscular dystrophies Neuromuscular Disorders. 23: 745. DOI: 10.1016/J.Nmd.2013.06.396  0.465
2013 Joubert R, Moal C, Vignaud A, Martin S, Richard I, Moullier P, Beggs AH, Childers MK, Mavilio F, Buj-Bello A. O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy Neuromuscular Disorders. 23: 741. DOI: 10.1016/J.Nmd.2013.06.384  0.444
2013 Ottenheijm C, Buck D, de Winter J, Lawlor M, Stienen G, Beggs A, Labeit S, Granzier H. A Novel Mouse Model of Nebulin-Based Nemaline Myopathy Biophysical Journal. 104: 38a. DOI: 10.1016/J.Bpj.2012.11.246  0.629
2012 Grange RW, Doering J, Mitchell E, Holder MN, Guan X, Goddard M, Tegeler C, Beggs AH, Childers MK. Muscle function in a canine model of X-linked myotubular myopathy. Muscle & Nerve. 46: 588-91. PMID 22987702 DOI: 10.1002/Mus.23463  0.412
2012 Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, ... ... Beggs AH, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009  0.673
2012 Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794. PMID 22952766 DOI: 10.1371/Journal.Pone.0043794  0.799
2012 Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. The American Journal of Pathology. 181: 961-8. PMID 22841819 DOI: 10.1016/J.Ajpath.2012.05.016  0.796
2012 Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American Journal of Human Genetics. 91: 365-71. PMID 22818856 DOI: 10.1016/J.Ajhg.2012.06.012  0.683
2012 Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal of Clinical Investigation. 122: 2439-43. PMID 22706301 DOI: 10.1172/Jci63597  0.408
2012 Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease Models & Mechanisms. 5: 852-9. PMID 22645112 DOI: 10.1242/Dmm.009746  0.422
2012 Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Clinical utility gene card for: Centronuclear and myotubular myopathies. European Journal of Human Genetics : Ejhg. 20. PMID 22617344 DOI: 10.1038/Ejhg.2012.91  0.624
2012 Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Hama-Amin AD, Diekstra A, Knoers NVAM, Lammens M, Alfen Nv. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscular Disorders. 22: 632-639. PMID 22560515 DOI: 10.1016/J.Nmd.2012.03.008  0.464
2012 Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, ... ... Beggs AH, et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Human Mutation. 33: 1037-44. PMID 22431104 DOI: 10.1002/Humu.22081  0.409
2012 Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Beggs AH, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067  0.416
2012 Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, ... Beggs AH, et al. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 13: 115-24. PMID 22371254 DOI: 10.1007/S10048-012-0315-Z  0.715
2012 Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Human Molecular Genetics. 21: 2341-56. PMID 22343409 DOI: 10.1093/Hmg/Dds053  0.661
2012 Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH. α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 1892-908. PMID 22253474 DOI: 10.1096/Fj.11-194548  0.749
2012 Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Human Molecular Genetics. 21: 811-25. PMID 22068590 DOI: 10.1093/Hmg/Ddr512  0.614
2012 Beggs A, Jamet T, Joubert R, Furth M, Holder M, Grange R, Lawlor M, Viola M, Poulard K, Masurier C, Martin S, Rivière C, Poppante K, Soker T, Hammer C, et al. T.O.4 Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy Neuromuscular Disorders. 22: 907. DOI: 10.1016/J.Nmd.2012.06.341  0.446
2012 Agrawal P, Schmitz K, DeChene E, Ceyhan Ö, Mercier M, Viola M, Markianos K, Beggs A. C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations Neuromuscular Disorders. 22: 840. DOI: 10.1016/J.Nmd.2012.06.128  0.462
2012 Gupta V, Gundry S, Bass J, Chen A, Zhou Y, Zon L, Beggs A. G.P.3 Modeling congenital muscle diseases in zebrafish Neuromuscular Disorders. 22: 813. DOI: 10.1016/J.Nmd.2012.06.037  0.492
2011 Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH. Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skeletal Muscle. 1: 23. PMID 21798101 DOI: 10.1186/2044-5040-1-23  0.656
2011 Payne EM, Bolli N, Rhodes J, Abdel-Wahab OI, Levine R, Hedvat CV, Stone R, Khanna-Gupta A, Sun H, Kanki JP, Gazda HT, Beggs AH, Cotter FE, Look AT. Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood. 118: 903-15. PMID 21653321 DOI: 10.1182/Blood-2010-11-318022  0.382
2011 Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH. Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Human Molecular Genetics. 20: 2015-25. PMID 21357678 DOI: 10.1093/Hmg/Ddr084  0.645
2011 Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Human Molecular Genetics. 20: 1712-25. PMID 21296866 DOI: 10.1093/Hmg/Ddr047  0.8
2011 Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH. Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. The American Journal of Pathology. 178: 784-93. PMID 21281811 DOI: 10.1016/J.Ajpath.2010.10.035  0.597
2011 Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. The Journal of Clinical Investigation. 121: 70-85. PMID 21135508 DOI: 10.1172/Jci44021  0.487
2011 Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Beggs AH, Amin AD, Knoers VVA, Lammens M, Alfen N. P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene Neuromuscular Disorders. 21: 696. DOI: 10.1016/J.Nmd.2011.06.941  0.379
2010 Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, ... ... Beggs AH, et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human Mutation. 31: 1269-79. PMID 20960466 DOI: 10.1002/Humu.21383  0.398
2010 Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, et al. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proceedings of the National Academy of Sciences of the United States of America. 107: 14697-702. PMID 20682747 DOI: 10.1073/Pnas.1003677107  0.487
2010 Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK. Functional muscle analysis of the Tcap knockout mouse. Human Molecular Genetics. 19: 2268-83. PMID 20233748 DOI: 10.1093/Hmg/Ddq105  0.641
2010 Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Human Mutation. 31: 176-83. PMID 19953533 DOI: 10.1002/Humu.21157  0.812
2010 Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). Journal of Structural Biology. 170: 334-43. PMID 19944167 DOI: 10.1016/J.Jsb.2009.11.013  0.413
2010 Ziane R, Huang H, Moghadaszadeh B, Beggs AH, Levesque G, Chahine M. Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry. 49: 166-78. PMID 19943616 DOI: 10.1021/Bi901086V  0.711
2010 Gazda H, Landowski M, Buros C, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Dobson L, Atsidaftos E, Lipton JMM, Beggs A. Array Comparative Genomic Hybridization of Ribosomal Protein Genes In Diamond-Blackfan Anemia Patients; Evidence for Three New DBA Genes, RPS8, RPS14 and RPL15, with Large Deletion or Duplication Blood. 116: 1007-1007. DOI: 10.1182/Blood.V116.21.1007.1007  0.401
2010 Hnia K, Tronchère H, Tomczak KK, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte JF. P1.45 The phosphoinositide phosphatase myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in muscle Neuromuscular Disorders. 20: 614-614. DOI: 10.1016/J.Nmd.2010.07.060  0.341
2009 Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proceedings of the National Academy of Sciences of the United States of America. 106: 18763-8. PMID 19846786 DOI: 10.1073/Pnas.0900705106  0.411
2009 Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. Bmc Genetics. 10: 66. PMID 19835634 DOI: 10.1186/1471-2156-10-66  0.661
2009 Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human Mutation. 30: 1267-77. PMID 19562689 DOI: 10.1002/Humu.21059  0.483
2009 Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H. Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Human Molecular Genetics. 18: 2359-69. PMID 19346529 DOI: 10.1093/Hmg/Ddp168  0.443
2009 Parker KC, Kong SW, Walsh RJ, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA. Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle & Nerve. 39: 739-53. PMID 19291799 DOI: 10.1002/Mus.21230  0.776
2009 Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C. The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscular Disorders : Nmd. 19: 179-81. PMID 19232495 DOI: 10.1016/J.Nmd.2008.12.001  0.377
2009 Shelton G, Bohm J, Snead E, Kozlowski M, Minor K, Tiret L, Childers M, Taylor S, Mickelson J, Guo L, Mizisin A, Laporte J, Beggs A. G.P.12.04 A missense variant in the MTM1 gene associated with X-linked myotubular myopathy in Labrador retrievers Neuromuscular Disorders. 19: 636. DOI: 10.1016/J.Nmd.2009.06.288  0.301
2009 Al-Qusairi L, Weiss N, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase Neuromuscular Disorders. 19: 635-636. DOI: 10.1016/J.Nmd.2009.06.286  0.335
2008 Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, ... ... Beggs AH, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. American Journal of Human Genetics. 83: 769-80. PMID 19061985 DOI: 10.1016/J.Ajhg.2008.11.004  0.406
2008 Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 112: 1582-92. PMID 18535205 DOI: 10.1182/Blood-2008-02-140012  0.382
2008 Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Human Molecular Genetics. 17: 2132-43. PMID 18434328 DOI: 10.1093/Hmg/Ddn112  0.458
2008 Gazda HT, Sheen MR, Vlachos A, Choesmel V, O’Donohue M, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball S, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, ... ... Beggs AH, et al. Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations Blood. 112: 39-39. DOI: 10.1182/Blood.V112.11.39.39  0.385
2008 Lee H, Lyssikatos C, Atsidaftos E, Muir E, Gazda H, Beggs AH, Lipton JM, Vlachos A. Remission in Patients with Diamond Blackfan Anemia (DBA) Appears to Be Unrestricted by Phenotype or Genotype Blood. 112: 3092-3092. DOI: 10.1182/Blood.V112.11.3092.3092  0.301
2008 Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104) Proceedings of the National Academy of Sciences of the United States of America. 105: 399. DOI: 10.1073/Pnas.0711290105  0.715
2008 Pierson CR, Agrawal PB, Blasko J, Beggs AH. Erratum to “Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy” [Neuromuscular Disorders 17(7) (2007) 562–568] Neuromuscular Disorders. 18: 519. DOI: 10.1016/J.Nmd.2007.07.004  0.302
2007 Walsh RJ, Kong SW, Yao Y, Jallal B, Kiener PA, Pinkus JL, Beggs AH, Amato AA, Greenberg SA. Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis and Rheumatism. 56: 3784-92. PMID 17968926 DOI: 10.1002/Art.22928  0.31
2007 Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America. 104: 17016-21. PMID 17942673 DOI: 10.1073/Pnas.0708115104  0.75
2007 Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscular Disorders : Nmd. 17: 562-8. PMID 17537630 DOI: 10.1016/J.Nmd.2007.03.010  0.615
2007 Farrar J, Nater M, Caywood E, McDevitt M, Kowalski J, Takemoto C, Talbot C, Meltzer P, Esposito D, Beggs A, Schneider H, Grabowska A, Ball S, Niewiadomska E, Sieff C, et al. A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA). Blood. 110: 422-422. DOI: 10.1182/Blood.V110.11.422.422  0.412
2007 Gazda HT, Sheen MR, Darras N, Shneider H, Sieff CA, Ball SE, Niewiadomska E, Newburger PE, Atsidaftos E, Vlachos A, Lipton JM, Beggs AH. Mutations of the Genes for Ribosomal Proteins L5 and L11 Are a Common Cause of Diamond-Blackfan Anemia. Blood. 110: 421-421. DOI: 10.1182/Blood.V110.11.421.421  0.373
2007 Clarke N, Smith R, Kornberg A, Shield L, Manson J, Beggs A, North K. C.P.1.04 Defining diagnostic boundaries for congenital fibre type disproportion Neuromuscular Disorders. 17: 835. DOI: 10.1016/J.Nmd.2007.06.249  0.575
2006 Dunnen JTd, Beggs AH. Multiplex PCR for Identifying DMD Gene Deletions Current Protocols in Human Genetics. 49. PMID 18428400 DOI: 10.1002/0471142905.Hg0903S49  0.361
2006 Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, ... ... Beggs AH, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American Journal of Human Genetics. 79: 1110-8. PMID 17186470 DOI: 10.1182/Blood.V108.11.181.181  0.387
2006 Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. American Journal of Human Genetics. 80: 162-7. PMID 17160903 DOI: 10.1086/510402  0.659
2006 Moghadaszadeh B, Beggs AH. Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda, Md.). 21: 307-15. PMID 16990451 DOI: 10.1152/Physiol.00021.2006  0.715
2006 Sanoudou D, Corbett MA, Han M, Ghoddusi M, Nguyen MA, Vlahovich N, Hardeman EC, Beggs AH. Skeletal muscle repair in a mouse model of nemaline myopathy. Human Molecular Genetics. 15: 2603-12. PMID 16877500 DOI: 10.1093/Hmg/Ddl186  0.485
2006 Cerletti M, Molloy MJ, Tomczak KK, Yoon S, Ramoni MF, Kho AT, Beggs AH, Gussoni E. Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. Journal of Cell Science. 119: 3117-27. PMID 16835268 DOI: 10.1242/Jcs.03056  0.394
2006 Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells (Dayton, Ohio). 24: 2034-44. PMID 16741228 DOI: 10.1634/Stemcells.2005-0554  0.379
2006 Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G. Adult-onset nemaline myopathy and monoclonal gammopathy. Archives of Neurology. 63: 132-4. PMID 16401746 DOI: 10.1001/Archneur.63.1.132  0.763
2006 Gazda H, Grabowska A, Long L, Latawiec E, Schneider H, Lipton J, Vlachos A, Atsidaftos E, Ball S, Orfali K, Niewiadomska E, Da Costa L, Tchernia GJ, Niemeyer CM, Meerpohl J, ... ... Beggs AH, et al. Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia. Blood. 108: 181-181. DOI: 10.1182/blood.V108.11.181.181  0.305
2006 Clarke N, Gonzalez V, Kornberg A, Shield L, Manson J, Smith R, Beggs A, Arbuckle S, Bourne A, Dennett X, Nonaka I, Guicheney P, Ferreiro A, North K. G.O.2 A clinical and pathological study of congenital fibre type disproportion Neuromuscular Disorders. 16: 646. DOI: 10.1016/J.Nmd.2006.05.024  0.577
2005 Haslett JN, Kang PB, Han M, Kho AT, Sanoudou D, Volinski JM, Beggs AH, Kohane IS, Kunkel LM. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 16: 739-48. PMID 16261416 DOI: 10.1007/S00335-005-0053-8  0.702
2005 Bitoun M, Maugenre S, Jeannet P, Lacène E, Ferrer X, Laforêt P, Martin J, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy Nature Genetics. 37: 1207-1209. PMID 16227997 DOI: 10.1038/Ng1657  0.407
2005 Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. Journal of Neuropathology and Experimental Neurology. 64: 555-64. PMID 16042307 DOI: 10.1097/01.Jnen.0000171653.17213.2E  0.819
2005 Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM. Variations in gene expression among different types of human skeletal muscle. Muscle & Nerve. 32: 483-91. PMID 15962335 DOI: 10.1002/Mus.20356  0.713
2005 Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proceedings of the National Academy of Sciences of the United States of America. 102: 8089-96; discussion . PMID 15863612 DOI: 10.1073/Pnas.0502506102  0.349
2005 Liadaki K, Kho AT, Sanoudou D, Schienda J, Flint A, Beggs AH, Kohane IS, Kunkel LM. Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. Experimental Cell Research. 303: 360-74. PMID 15652349 DOI: 10.1016/J.Yexcr.2004.10.011  0.646
2005 Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Sieff CA, Beggs AH. Defective Ribosomal Protein Gene Expression Alters Transcription, Translation and Oncogenic Pathways in Diamond-Blackfan Anemia. Blood. 106: 3546-3546. DOI: 10.1182/Blood.V106.11.3546.3546  0.335
2004 Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, ... ... Beggs AH, et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British Journal of Haematology. 127: 105-13. PMID 15384984 DOI: 10.1111/J.1365-2141.2004.05152.X  0.387
2004 Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscular Disorders : Nmd. 14: 461-70. PMID 15336686 DOI: 10.1016/J.Nmd.2004.03.006  0.7
2004 Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Annals of Neurology. 56: 86-96. PMID 15236405 DOI: 10.1002/Ana.20157  0.679
2004 Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH. Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiology of Disease. 15: 590-600. PMID 15056467 DOI: 10.1016/J.Nbd.2003.12.013  0.706
2004 Tomczak KK, Marinescu VD, Ramoni MF, Sanoudou D, Montanaro F, Han M, Kunkel LM, Kohane IS, Beggs AH. Expression profiling and identification of novel genes involved in myogenic differentiation The Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 18: 403-405. PMID 14688207 DOI: 10.1096/Fj.03-0568Fje  0.667
2004 Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH. Transcriptional profile of postmortem skeletal muscle. Physiological Genomics. 16: 222-8. PMID 14625377 DOI: 10.1152/Physiolgenomics.00137.2003  0.692
2004 Gazda HT, Sanoudou D, Kho AT, Zaucha JM, Sieff CA, Beggs AH. Gene Expression Changes in Bone Marrow Cells from Diamond-Blackfan Anemia Patients. Blood. 104: 720-720. DOI: 10.1182/Blood.V104.11.720.720  0.314
2003 Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscular Disorders : Nmd. 13: 519-31. PMID 12921789 DOI: 10.1016/S0960-8966(03)00101-9  0.458
2003 Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics. 73: 627-31. PMID 12879365 DOI: 10.1086/377590  0.716
2003 Nimgaonkar A, Sanoudou D, Butte AJ, Haslett JN, Kunkel LM, Beggs AH, Kohane IS. Reproducibility of gene expression across generations of Affymetrix microarrays. Bmc Bioinformatics. 4: 27. PMID 12823866 DOI: 10.1186/1471-2105-4-27  0.633
2003 Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M. Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. Journal of Child Neurology. 18: 235-40. PMID 12731651 DOI: 10.1177/08830738030180031501  0.354
2003 Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM. Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics. 4: 163-71. PMID 12698323 DOI: 10.1007/S10048-003-0148-X  0.706
2003 Sanoudou D, Haslett JN, Kho AT, Guo S, Gazda HT, Greenberg SA, Lidov HG, Kohane IS, Kunkel LM, Beggs AH. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proceedings of the National Academy of Sciences of the United States of America. 100: 4666-71. PMID 12677001 DOI: 10.1073/Pnas.0330960100  0.715
2003 Zanoteli E, Lotuffo RM, Oliveira AS, Beggs AH, Canovas M, Zatz M, Vainzof M. Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. Journal of Molecular Neuroscience : Mn. 20: 39-42. PMID 12663933 DOI: 10.1385/Jmn:20:1:39  0.397
2003 Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology. 60: 665-73. PMID 12601110 DOI: 10.1212/01.Wnl.0000046585.81304.Bc  0.661
2003 Bönnemann CG, Thompson TG, van der Ven PF, Goebel HH, Warlo I, Vollmers B, Reimann J, Herms J, Gautel M, Takada F, Beggs AH, Fürst DO, Kunkel LM, Hanefeld F, Schröder R. Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. Journal of the Neurological Sciences. 206: 71-8. PMID 12480088 DOI: 10.1016/S0022-510X(02)00341-6  0.322
2003 Adam RM, McLellan DL, Beggs AH, Kohane IS, Freeman MR. A small subset of genes is mechanically responsive in human bladder muscle cells European Urology Supplements. 2: 60. DOI: 10.1016/S1569-9056(03)90438-6  0.397
2002 Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM. Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proceedings of the National Academy of Sciences of the United States of America. 99: 15000-5. PMID 12415109 DOI: 10.1073/Pnas.192571199  0.72
2002 Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA. Molecular profiles of inflammatory myopathies. Neurology. 59: 1170-82. PMID 12391344 DOI: 10.1212/Wnl.59.8.1170  0.626
2002 Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M. Telethonin protein expression in neuromuscular disorders. Biochimica Et Biophysica Acta. 1588: 33-40. PMID 12379311 DOI: 10.1016/S0925-4439(02)00113-8  0.461
2002 Zervos A, Hunt KE, Tong HQ, Avallone J, Morales J, Friedman N, Cohen BH, Clark B, Guo S, Gazda H, Beggs AH, Traboulsi EI. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. European Journal of Ophthalmology. 12: 253-61. PMID 12219993 DOI: 10.1177/112067210201200401  0.339
2002 Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 59: 613-7. PMID 12196661 DOI: 10.1212/WNL.59.4.613  0.341
2001 Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Nemaline myopathy: a clinical study of 143 cases. Annals of Neurology. 50: 312-20. PMID 11558787 DOI: 10.1002/Ana.1080  0.663
2001 Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Trends in Molecular Medicine. 7: 362-8. PMID 11516997 DOI: 10.1016/S1471-4914(01)02089-5  0.454
2001 Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM. Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. Bmc Genetics. 2: 8. PMID 11454237 DOI: 10.1186/1471-2156-2-8  0.685
2001 Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Genetics. 10: 1335-46. PMID 11440986 DOI: 10.1093/Hmg/10.13.1335  0.655
2001 Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, ... ... Beggs AH, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood. 97: 2145-50. PMID 11264183 DOI: 10.1182/Blood.V97.7.2145  0.303
2001 Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proceedings of the National Academy of Sciences of the United States of America. 98: 1595-600. PMID 11171996 DOI: 10.1073/pnas.041609698  0.663
2001 Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 103: 89-95. PMID 11136691 DOI: 10.1161/01.Cir.103.1.89  0.344
2001 Takada F, Woude DLV, Tong H, Thompson TG, Watkins SC, Kunkel LM, Beggs AH. Myozenin: An  -actinin- and  -filamin-binding protein of skeletal muscle Z lines Proceedings of the National Academy of Sciences. 98: 1595-1600. DOI: 10.1073/Pnas.98.4.1595  0.694
2000 Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodríguez-Pérez JC, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genetics. 24: 251-6. PMID 10700177 DOI: 10.1038/73456  0.624
2000 Gazda H, Lipton J, Willig T, Ball S, Niemeyer C, Tchernia G, Mohandas N, Daly M, Ploszynska A, Vlachos A, Glader B, Orfali K, Rokicka-Milewska R, Ohara A, Pospisilova D, ... ... Beggs A, et al. Evidence for a second diamond-blackfan anemia gene on human chromosome 8p23-22, and for at least one other dba gene Experimental Hematology. 28: 1493. DOI: 10.1016/S0301-472X(00)00565-8  0.368
1999 Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, ... ... Beggs AH, et al. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscular Disorders : Nmd. 9: 564-72. PMID 10619714 DOI: 10.1016/S0960-8966(99)00061-9  0.388
1999 Wattanasirichaigoon D, Vesely MR, Duggal P, Levine JC, Blume ED, Wolff GS, Edwards SB, Beggs AH. Sodium channel abnormalities are infrequent in patients with long QT syndrome: Identification of two novel SCN5A mutations American Journal of Medical Genetics. 86: 470-476. PMID 10508990 DOI: 10.1002/(Sici)1096-8628(19991029)86:5<470::Aid-Ajmg13>3.0.Co;2-Y  0.378
1999 Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, ... ... Beggs AH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics. 23: 208-12. PMID 10508519 DOI: 10.1038/13837  0.718
1999 Hance JE, Fu SY, Watkins SC, Beggs AH, Michalak M. alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex. Archives of Biochemistry and Biophysics. 365: 216-22. PMID 10328815 DOI: 10.1006/Abbi.1999.1172  0.334
1999 North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics. 21: 353-4. PMID 10192379 DOI: 10.1038/7675  0.613
1999 Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, ... Beggs AH, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proceedings of the National Academy of Sciences of the United States of America. 96: 2305-10. PMID 10051637 DOI: 10.1073/Pnas.96.5.2305  0.459
1999 Wattanasirichaigoon D, Beggs AH. Molecular genetics of long-QT syndrome. Current Opinion in Pediatrics. 10: 628-34. PMID 9848024 DOI: 10.1097/00008480-199810060-00016  0.372
1998 Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. American Journal of Human Genetics. 63: 517-25. PMID 9683611 DOI: 10.1086/301980  0.742
1998 Chan Y, Tong HQ, Beggs AH, Kunkel LM. Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochemical and Biophysical Research Communications. 248: 134-9. PMID 9675099 DOI: 10.1006/Bbrc.1998.8920  0.66
1998 Satler CA, Vesely MR, Duggal P, Ginsburg GS, Beggs AH. Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome Human Genetics. 102: 265-272. PMID 9544837 DOI: 10.1007/S004390050690  0.362
1998 Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH. Mutation of the gene for IsK associated with both Jervell and Lange- Nielsen and Romano-Ward forms of long-QT syndrome Circulation. 97: 142-146. PMID 9445165 DOI: 10.1161/01.Cir.97.2.142  0.395
1998 Khurana TS, Specht LA, Beggs AH, Tomé FM, Letureq F, Chevallay M, Chafey P, Kunkel LM. The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. Biochemical and Biophysical Research Communications. 241: 232-5. PMID 9425255 DOI: 10.1006/Bbrc.1997.7799  0.632
1997 Beggs AH. Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation. 95: 2344-7. PMID 9170393 DOI: 10.1161/01.Cir.95.10.2344  0.414
1997 Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Annals of Neurology. 41: 314-25. PMID 9066352 DOI: 10.1002/Ana.410410306  0.747
1997 North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscular Disorders : Nmd. 6: 229-35. PMID 8887951 DOI: 10.1016/0960-8966(96)00361-6  0.656
1996 Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics. 38: 405-17. PMID 8975718 DOI: 10.1006/Geno.1996.0644  0.657
1996 North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. Congenital muscular dystrophy associated with merosin deficiency. Journal of Child Neurology. 11: 291-5. PMID 8807418 DOI: 10.1177/088307389601100406  0.652
1996 North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, Smith TW, Beggs AH, Specht LA. Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy. Neurology. 46: 461-5. PMID 8614513 DOI: 10.1212/Wnl.46.2.461  0.665
1996 Beggs AH. Multiplex PCR for Identifying Dystrophin Gene Deletions Current Protocols in Human Genetics. 10: 9.3.1-9.3.19. DOI: 10.1002/0471142905.Hg0903S10  0.348
1995 Byers TJ, Beggs AH, McNally EM, Kunkel LM. Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. Febs Letters. 368: 500-4. PMID 7635207 DOI: 10.1016/0014-5793(95)00722-L  0.631
1995 Azim AC, Knoll JH, Beggs AH, Chishti AH. Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. The Journal of Biological Chemistry. 270: 17407-13. PMID 7615546 DOI: 10.1074/Jbc.270.29.17407  0.32
1995 Arikawa-Hirasawa E, Koga R, Tsukahara T, Nonaka I, Mitsudome A, Goto K, Beggs AH, Arahata K. A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Neuromuscular Disorders. 5: 429-438. PMID 7496177 DOI: 10.1016/0960-8966(94)00087-P  0.413
1994 Zhu J, Leon SP, Beggs AH, Busque L, Gilliland DG, Black PM. Human pituitary adenomas show no loss of heterozygosity at the retinoblastoma gene locus. The Journal of Clinical Endocrinology and Metabolism. 78: 922-7. PMID 8157722 DOI: 10.1210/Jcem.78.4.8157722  0.312
1994 Tahvanainen E, Beggs AH, Wallgren-Pettersson C. Exclusion of two candidate loci for autosomal recessive nemaline myopathy. Journal of Medical Genetics. 31: 79-80. PMID 8151647 DOI: 10.1136/Jmg.31.1.79  0.311
1994 Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics. 7: 69-73. PMID 8075644 DOI: 10.1038/Ng0594-69  0.797
1994 Haas S, Haque NS, Beggs AH, Khalili K, Knobler RL, Small J. Expression of the myelin basic protein gene in transgenic mice expressing human neurotropic virus, JCV, early protein. Virology. 202: 89-96. PMID 7516601 DOI: 10.1006/Viro.1994.1325  0.307
1993 Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, Vainzof M, Davies KE, Zatz M. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? American Journal of Medical Genetics. 46: 172-5. PMID 8484404 DOI: 10.1002/Ajmg.1320460214  0.338
1993 Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM. Dystrophin analysis in idiopathic dilated cardiomyopathy. Journal of Medical Genetics. 30: 955-7. PMID 8301653 DOI: 10.1136/Jmg.30.11.955  0.688
1993 Beggs AH, Hoffman EP, Kunkel LM. Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. American Journal of Medical Genetics. 44: 378-81. PMID 1488990 DOI: 10.1002/Ajmg.1320440322  0.693
1993 Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F. Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatric Neurology. 8: 432-6. PMID 1476571 DOI: 10.1016/0887-8994(92)90004-I  0.686
1992 Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 89: 623-7. PMID 1731332 DOI: 10.1073/Pnas.89.2.623  0.454
1992 Hardiman O, Brown RH, Beggs AH, Specht L, Sklar RM. Differential glucocorticoid effects on the fusion of Duchenne/Becker and control muscle cultures: pharmacologic detection of accelerated aging in dystrophic muscle. Neurology. 42: 1085-91. PMID 1579232 DOI: 10.1212/Wnl.42.5.1085  0.419
1992 Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG. A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 13: 1314-5. PMID 1505962 DOI: 10.1016/0888-7543(92)90054-V  0.651
1992 Miller G, Beggs AH, Towfighi J. Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. Neuromuscular Disorders : Nmd. 2: 121-4. PMID 1422199 DOI: 10.1016/0960-8966(92)90044-7  0.44
1991 Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human Genetics. 86: 45-8. PMID 2253937 DOI: 10.1007/Bf00205170  0.666
1991 Arahata K, Beggs AH, Honda H, Ito S, Ishiura S, Tsukahara T, Ishiguro T, Eguchi C, Orimo S, Arikawa E. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. Journal of the Neurological Sciences. 101: 148-56. PMID 2033400 DOI: 10.1016/0022-510X(91)90039-A  0.423
1991 Boyce FM, Beggs AH, Feener C, Kunkel LM. Dystrophin is transcribed in brain from a distant upstream promoter. Proceedings of the National Academy of Sciences of the United States of America. 88: 1276-80. PMID 1996328 DOI: 10.1073/Pnas.88.4.1276  0.663
1990 Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM. Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology. 40: 808-12. PMID 2158637 DOI: 10.1212/Wnl.40.5.808  0.686
1990 Beggs AH, Miner JH, Scangos GA. Cell type-specific expression of JC virus T antigen in primary and established cell lines from transgenic mice Journal of General Virology. 71: 151-164. PMID 2154532 DOI: 10.1099/0022-1317-71-1-151  0.756
1990 Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Research. 18: 1931. PMID 1970874 DOI: 10.1093/Nar/18.7.1931  0.589
1990 Beggs AH, Kunkel LM. Improved diagnosis of Duchenne/Becker muscular dystrophy. The Journal of Clinical Investigation. 85: 613-9. PMID 1968908 DOI: 10.1172/Jci114482  0.623
1990 Sklar RM, Beggs AH, Lev AA, Specht L, Shapiro F, Brown RH. Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture. Neurology. 40: 1854-8. PMID 1701042 DOI: 10.1212/Wnl.40.12.1854  0.365
1989 Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C. Cross-reactive protein in Duchenne muscle. Lancet (London, England). 2: 1211-2. PMID 2478850 DOI: 10.1016/S0140-6736(89)91812-6  0.668
1987 Beggs AH, Axelman J, Migeon BR. Reactivation of X-linked genes in human fibroblasts transformed by origin-defective SV40. Somatic Cell and Molecular Genetics. 12: 585-94. PMID 3024333 DOI: 10.1007/Bf01671944  0.646
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